| ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with … GDE Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson ... Human Mutation, 2012 | 326 | 2012 |
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ... Human mutation 39 (5), 593-620, 2018 | 291 | 2018 |
| BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 MS Cline, RG Liao, MT Parsons, B Paten, F Alquaddoomi, A Antoniou, ... PLoS genetics 14 (12), e1007752, 2018 | 194 | 2018 |
| A guide for functional analysis of BRCA1 variants of uncertain significance GA Millot, MA Carvalho, SM Caputo, MPG Vreeswijk, MA Brown, M Webb, ... Human mutation 33 (11), 1526-1537, 2012 | 165 | 2012 |
| Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes L Fachal, H Aschard, J Beesley, DR Barnes, J Allen, S Kar, KA Pooley, ... Nature genetics 52 (1), 56-73, 2020 | 149 | 2020 |
| Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants S Li, V Silvestri, G Leslie, TR Rebbeck, SL Neuhausen, JL Hopper, ... Journal of Clinical Oncology 40 (14), 1529-1541, 2022 | 137 | 2022 |
| Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 L Guidugli, A Carreira, SM Caputo, A Ehlen, A Galli, ANA Monteiro, ... Human mutation 35 (2), 151-164, 2014 | 133 | 2014 |
| BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk AB Spurdle, PJ Whiley, B Thompson, B Feng, S Healey, MA Brown, ... Journal of medical genetics 49 (8), 525-532, 2012 | 127 | 2012 |
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 119 | 2019 |
| Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases S Caputo, L Benboudjema, O Sinilnikova, E Rouleau, C Béroud, ... Nucleic acids research 40 (D1), D992-D1002, 2012 | 108 | 2012 |
| Combined genetic and splicing analysis of BRCA1 c.[594-2A> C; 641A> G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant … M de La Hoya, O Soukarieh, I López-Perolio, A Vega, LC Walker, ... Human molecular genetics 25 (11), 2256-2268, 2016 | 94 | 2016 |
| Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort R Leman, P Gaildrat, G Le Gac, C Ka, Y Fichou, MP Audrezet, ... Nucleic acids research 46 (15), 7913-7923, 2018 | 86 | 2018 |
| The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain S Caputo, J Couprie, I Duband-Goulet, E Kondé, F Lin, S Braud, ... Journal of Biological Chemistry 281 (26), 18208-18215, 2006 | 78 | 2006 |
| The BRCA1 c. 5096G> A p. Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA … S Moghadasi, HD Meeks, MPG Vreeswijk, LAM Janssen, Å Borg, ... Journal of Medical Genetics, jmedgenet-2017-104560, 2017 | 73 | 2017 |
| BRCA Share: A Collection of Clinical BRCA Gene Variants C Beroud, SI Letovsky, CD Braastad, SM Caputo, O Beaudoux, YJ Bignon, ... Human Mutation, 2016 | 67 | 2016 |
| Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations L Golmard, C Delnatte, A Laugé, V Moncoutier, C Lefol, K Abidallah, ... Oncogene 35 (10), 1324-1327, 2016 | 61 | 2016 |
| Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO) J Lecarpentier, C Noguès, E Mouret-Fourme, D Stoppa-Lyonnet, C Lasset, ... Breast cancer research and treatment 130, 927-938, 2011 | 56 | 2011 |
| Multiple sequence variants of BRCA2 exon 7 alter splicing regulation P Gaildrat, S Krieger, D Di Giacomo, J Abdat, F Révillion, S Caputo, ... Journal of medical genetics 49 (10), 609-617, 2012 | 55 | 2012 |
| S1 ribosomal protein functions in translation initiation and ribonuclease RegB activation are mediated by similar RNA-protein interactions: an NMR and SAXS analysis P Aliprandi, C Sizun, J Perez, F Mareuil, S Caputo, JL Leroy, B Odaert, ... Journal of biological chemistry 283 (19), 13289-13301, 2008 | 52 | 2008 |
| The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress VLRM Verstraeten, S Caputo, MAM Van Steensel, I Duband‐Goulet, ... Journal of Cellular and Molecular Medicine 13 (5), 959-971, 2009 | 45 | 2009 |
Sophie Zinn-JustinHead of Laboratory at Commissariat à l'Energie Atomique, Gif-sur-Yvette, FranceVerified email at cea.fr
